Canonical Allele Identifier: CA020617
Gene: TGFBR2 HGNC NCBI
COSMIC:
COSM5019391 (not active)
COSM5019392 (not active)
MyVariant.info:
GRCh38 chr3:g.30672342G>A
GRCh37 chr3:g.30713834G>A
Revel Score:
ENST00000295754 (MANE Select) 0.790
ENST00000359013 0.790
ENST00000439925 0.790
gnomAD v2:
3:30713834 G / A
gnomAD v3:
3:30672342 G / A
gnomAD v4:
chr3-30672342-G-A
Joint Max Group AF 0.00205703 (NFE)
Genomes Max Group AF 0.00167065 (NFE)
Exomes Max Group AF 0.00206602 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672342G>A , CM000665.2:g.30672342G>A GRCh38
NC_000003.11:g.30713834G>A , CM000665.1:g.30713834G>A GRCh37
NC_000003.10:g.30688838G>A NCBI36
NG_007490.1:g.70841G>A , LRG_779:g.70841G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1159G>A MANE Select ENSP00000295754.5:p.Val387Met
ENST00000672866.1:n.2755G>A
ENST00000295754.9:c.1159G>A ENSP00000295754.5:p.Val387Met
ENST00000359013.4:c.1234G>A ENSP00000351905.4:p.Val412Met
NM_001024847.2:c.1234G>A , LRG_779t1:c.1234G>A NP_001020018.1:p.Val412Met
NM_003242.5:c.1159G>A NP_003233.4:p.Val387Met
XM_011534043.1:c.1186G>A XP_011532345.1:p.Val396Met
XM_011534044.1:c.1111G>A XP_011532346.1:p.Val371Met
XM_011534045.1:c.1054G>A XP_011532347.1:p.Val352Met
XM_011534043.2:c.1186G>A XP_011532345.1:p.Val396Met
XM_011534045.3:c.1054G>A XP_011532347.1:p.Val352Met
XM_017007106.1:c.1054G>A XP_016862595.1:p.Val352Met
NM_003242.6:c.1159G>A MANE Select NP_003233.4:p.Val387Met
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